Update - 2 Month Long Mayo Visit

[issie]

Well after 2 long months of going to doctors and having so many blood draws, MRI's and Autonomic Test - I really don't know anything more than I knew when I went there. It was confirmed that I have the Hyper type of POTS. I had high noriepiphrine levels with standing. They ruled out carcinoid issues and autoimmune thyroid issues. But there is still an autoimmune component to my picture - my IGG levels were low. But, I now have alopecia and my vitiligo is spreading. The dermatologist put cortisol shots into my head and said if he didn't get the alopecia stopped it could take every stitch of hair off my body. Not sure of the reasons for the autoimmune things. He at first thought that autoimmune thyroid would be the case - but the test came back okay.

As for mast cell activation disorder it's still a big possibility. The test that they do for mastyosis was negative and would be for mast cell activation if you aren't in a flare. The allergist wants me to get to a lab within an hour of another bad flare and have blood draws and start a urine collection. This is to pick up histamines. He isn't sure of the connection with POTS - even though there is the one article written. He feels that there needs to be more testing and research in this area. If you go to Mayo in AZ this doctors name is Dr. Lewis. He is trying to learn about this issue for us. He even called MN to get more info from doctors there that may have more experience with POTS people and mast cell. He is awaiting some info to relay to me and I got a message today to call him because he has more info. So, some possible help here. I didn't react to any of the foods tested. But, I was told that the allergy test (blood or skin) only have a 90 to 95% efficiency. The doctor said that the serums used have been broken down and not all the proteins are there because of the process and he feels that there is a good chance that there will be false negatives. I'm sure there was in my case - I have life and death reactions to shrimp and I didn't show allergic to it. I was issued an epi pen for this though because my reaction is so severe. So, my take on allergy testing - don't waste your money. Just pay attention to what your body is doing and if you react - assume your allergic. One thing I learned from him about allergies and allergy medicine. He said to never take an H2 blocker without taking an H1 blocker. Because if you suppress the H2 and not the H1 then the H2 will convert over to an H1 and the allergy will be even worse.

The neurologist re-did my autonomic test and they are still positive for HyperPOTS. No big surprise there. After sooooo many tries on different medicines - I think we've finally found something that is making a difference - clonidine. I can only take 1/4 of a pill every 7 hours. He wanted me to take 1/2 twice a day. That was too much. My blood pressure isn't swinging from such extreme highs to such extreme lows and my tachy is better. I hope it continues to help. My body will sometimes be okay with meds for a certain length of time and then something happens and I can't take it. But, been on this for a week and so far so good.

My renin and aldosterone levels were almost non-existant. Because my potassium levels were okay, I don't fit the typical hyporenin/hypoaldesterone description. I took allot of info in to the nephrologist. When I spoke with him he did not think that there was any chance of the angiotension II being elevated with me because of the renin and aldesterone levels being low. The chain of break down, he said would indicate otherwise. I gave him info showing that with POTS people this is sometimes the case - with low renin and aldesterone - yet to be explained. I asked him to please help us discover the reasons for these paradox's. I guess he's not interested in looking into this for us. Since the info I gave him he mailed back to me and it(appeared) to be unread. So, as for this issue with renin and aldesterone - doesn't look like this nephrologist is interested in discovering the cause of this dysfunction in us. Too bad, because I feel like this is a definite piece of the puzzle and needs further study and explanation. I did give this info to the neurologist (Dr. Goodman) also, he is looking it over and we will see what feedback he gives on this issue.

It remains to be seen if there is any more digging as to the REASONS for POTS. I kinda felt like if you get diagnosed with POTS - then the ball stops there. There isn't enough digging for reasons for the diagnosis. Allot of the testing I had done was because I asked to have certain things ruled out. I'm not sure I would have gotten the testing if I hadn't of poised the proper questions to get the order in for them. In fact, at my last doctor visit with the pivotal doctor (a very good and thorough internest - Dr. Windgassen) she said - You have POTS, we really don't know the reason for it and no one is really sure what to do for it. I told her that for us with a rare disorder we want to know WHY. She laughed and said - we don't know why. I got the impression - just accept the diagnosis and learn to live with it. She did say, you know some people get over it. Well, I've had it since being a child and if I was going to get over it - seems like somewhere along the 40 years of having it - I would have. Right? It's just gotten worse since I've gotten older. Or maybe you just get tired of dealing with it and you start trying to find some answers as to WHY. I feel like I hit a dead end street here. Unless something is glaring - I don't think we're going to get answers. Even when they are glaring (low renin/aldesteron) we still aren't going to get answers. So, unfortunately - I have to put a bandaid on it and hope that someday some doctor will do some test and have more concrete answers. But, right now - it's all still in it's infancy. Too few people have it and too few doctors are willing to spend enough time on it to really get down to the why's and what for's. I do know that there are some doctors in the middle of testing back east. Let us all hope that they come up with something new and we can keep on trying things and maybe something will help.

I wish I had some more definitive answers for you all - but not this time. I really tried to have every avenue of possibilities discovered this trip and I just didn't come up with anything more than what I already knew. Still no answers as to WHY. I think, for now in my case, I'm finished with the hunt. Unless something gets significantly worse - I just have to accept that this is life and you make the best lemonade that you can with the lemons that get handed to you, as sour as that might be. (Where's the sugar - lets sweeten our life up some! LOL)

Oh, one thing of interest to some of you. Both the nephrologist and neurologist DO NOT want me to salt load. With high blood pressures and low renin/low aldesterone salt is counter-indicative in this case. My cardio doc also, does not want me to wear high compression hose. He wants me to wear them - just not a heavy strength, because this could make my blood pressure go higher. Goes to show - what's good for one POTS patient, isn't good for all POTS patients. Allot of the treatment depends on the form of POTS you have. This is also true of the type of medicines you use to treat the symptoms.

The neuro (Dr. Goodman) feels in my case - there is gentic (Ehlers Danlos), autoimmune and probable mast cell activation issues. This is a SYNDROME and there is no one thing that causes it - there is a bunch of things and they all add up to the dysfunction we all know as POTS.

[hholmes13]

Hi issie,

I'm sorry you didn't get more answers from your trip. I know what you mean for wanting to find out the WHY behind this stuff. I'm very interested in the kidney connection to POTS. I actually go see a nephrologist here at Mayo in MN on Monday. I plan to chat with him about the renin/aldosterone stuff. I'm having some preliminary labs drawn on Friday and they aren't checking those levels. I'm going to ask to have that done. It seems like no matter how much salt I take in, I'm not expanding my blood volume a whole lot. I have a feeling everything will come back fine, but it's worth a shot!

I work in a research lab that does electrophysiology studies on a lot of different membrane transport proteins. My boss is a renal physiologist, so we do a lot with proteins found in the kidneys. I remember reading in a paper on this site about the renin/aldosterone paradox. It talked about low levels of renin & aldosterone and how angiotensin II helps with sodium reabsorption in the proximal tubule. A few of the proteins we study help transport sodium in the renal proximal tubule. I want to chat with my boss and see if there could be some possible candidates to do functional analysis on. Especially if we could get some DNA from people with POTS and scan for possible mutations...anyway I'm just hallucinating about possibilities here. I would definitely have a vested interest in my job if I could start poking around for answers about our illnesses!

Anyway, once again sorry you didn't get more from your trip. I really hope the clonidine continues to help you improve. Good luck!

Cheers,

Heather

[sue1234]

OMG, Heather, you are in a perfect situation to see if you can get your boss to "delve" into the subject. I find this sooo timely to find out you work with transport proteins, when I have my geneticist appt. tomorrow to go talk about the solute carrier family(SLC). It is the protein transporter family in the gut, bringing all kinds of electrolytes across, with sodium being one. I have found through an exhaustive search that within the 50ish SLC family, I can find many that affect just about every issue people here on the POTS board have talked about.

SLC2A1: Glucose transport(hypoglycemia)

SLC5A7: Choline transport(we're always talking about acetylcholine issues)

SLC6A2: NET(norepinephrine issues)

SLC6A3: Dopamine

SLC6A3: forgot technical name, but expresses as exaggerated startle to unexpected noises or tactile stimuli(I startle way too easily)

SLC6A19: Hartnup's disease(tryptophan disorder) (specific symptom for this I have, so asking tomorrow)

SLC12A3: Gitelman's Syndrome--inability of kidney to reabsorb salt

SLC22A5: Carnitine deficiency(many members here supplement with carnitine)

SLC25A4: Mitochondria(some are + or suspecting mito disorders)

SLC37A4: Glycogen Storage disease(some have wondered here, too)

I know this is overwhelming, but I found so many of our issues here in this family. Correct me if I am wrong, but they all have a function of transporting these things across the intestinal membrane. So, if I have a NET problem or a glucose transport problem, I would think the condition of the gut affects all this. I have a million questions, but you can see alot of all of our issues is on this list. It affects how sodium is or isn't able to cross the border. All of the above issues happen because one of their transporters is affected. My quest is to find out if the SLC family can have issues go wrong out of the blue, then can they be fixed?

I really would like to start a new thread on it, but I was waiting for my appt. tomorrow. I had already faxed my questions regarding this to my geneticist.

[potsgirl]

Issie,

So nice to see you back and with a lot of information to share. I feel the same frustration in that the doctors I've seen so far haven't seen too interested in getting to the root cause of my POTS. I also get the "well, you have POTS and we're not sure why. These are some things that may be helpful, but basically just try to adjust your living style and get used to it." They only tested me for one suspected cause - amyloidosis, which is very difficult to detect. Hopefully that's not my problem, because it's a nasty thing to have....

Hope others have had more positive experiences, although it is tiring to keep trying new doctors and new meds so much of the time!

[sue1234]

Potsgirl, my neuro tested me for amyloidosis, also. It of course was negative.

[sue1234]

And, yes Issie, it is good to have you back! How long have you been losing your hair?! I hope the cortisone shot helps. Just what you need, something else!

I hope you stirred enough up at Mayo to get them to do more research. It makes me think of Vandy. I have been a member here since 2006, and in those 5 years, I don't recall seeing anything really increasingly useful coming out of their POTS-focused research.

[potsgirl]

I had an appointment at Mayo Scottsdale with my neurologist about 6 weeks ago, and he told me that they have a new drug that they're testing for POTS patients, and that they'll be doing human trials with this drug this coming year. I think I may qualify for it, from what he said. I'll let you all know when I hear an update.

[hholmes13]

OMG, Heather, you are in a perfect situation to see if you can get your boss to "delve" into the subject. I find this sooo timely to find out you work with transport proteins, when I have my geneticist appt. tomorrow to go talk about the solute carrier family(SLC). It is the protein transporter family in the gut, bringing all kinds of electrolytes across, with sodium being one. I have found through an exhaustive search that within the 50ish SLC family, I can find many that affect just about every issue people here on the POTS board have talked about.

SLC2A1: Glucose transport(hypoglycemia)

SLC5A7: Choline transport(we're always talking about acetylcholine issues)

SLC6A2: NET(norepinephrine issues)

SLC6A3: Dopamine

SLC6A3: forgot technical name, but expresses as exaggerated startle to unexpected noises or tactile stimuli(I startle way too easily)

SLC6A19: Hartnup's disease(tryptophan disorder) (specific symptom for this I have, so asking tomorrow)

SLC12A3: Gitelman's Syndrome--inability of kidney to reabsorb salt

SLC22A5: Carnitine deficiency(many members here supplement with carnitine)

SLC25A4: Mitochondria(some are + or suspecting mito disorders)

SLC37A4: Glycogen Storage disease(some have wondered here, too)

I know this is overwhelming, but I found so many of our issues here in this family. Correct me if I am wrong, but they all have a function of transporting these things across the intestinal membrane. So, if I have a NET problem or a glucose transport problem, I would think the condition of the gut affects all this. I have a million questions, but you can see alot of all of our issues is on this list. It affects how sodium is or isn't able to cross the border. All of the above issues happen because one of their transporters is affected. My quest is to find out if the SLC family can have issues go wrong out of the blue, then can they be fixed?

I really would like to start a new thread on it, but I was waiting for my appt. tomorrow. I had already faxed my questions regarding this to my geneticist.

Hi sue1234,

We study quite a bit of random transporters in our lab. The majority are from the SLC26 and SLC4 families. The SLC proteins are found all over your body. Some have different isoforms specific to different tissues. Each transporter has a specific function, but sometimes it's pretty complicated...especially because some can be activated or deactivated by other proteins nearby. If you find you have any mutations in any of your transporters, let me know. (If you don't mind of course!) It would be interesting to recreate it in our lab and see how the transport activity is affected compared to the wild-type protein. I'm going to start doing some more reading and see if I can find anything as well.

[sue1234]

I forgot to add SLC26! That is the one I am sure to have an issue with, as I have a diagnosed disorder Mulitple Epiphyseal Dysplasia. I can't believe I left that out.

[issie]

Well, sign me up. It'd be interesting to see if there is a connection. I'm sure I could get a doctor to take samples and send it on to you. How do you go about having this checked?

Potsgirl,

I think I might have tried the new medicine. He tried me on Guiafacin first. It was not good for me. I could not function. I was so lethargic and it dropped my blood pressure too much, especially with sleeping at night. I don't really notice anything bad with the dosing of clonnidine that I'm taking - just more calmness and not such bad tachy. Doesn't affect my thinking or ability to function. Blood pressures are staying more even - instead of such wild swings. Of course, I'm still using the Bentyl and 1/2 Tramadol about every third night and that helps with sleep and pain. I think Dr. Goodman has several people on the Guiafacin and I guess for some it is working - not me though.

Since we are both going to the same Dr.'s it seems we've both hit a dead end in the research department. I wish someone would take up the hunt.

[corina]

thanks for sharing your story issie. and thank you for working so hard to try and get answers for all of us. sorry to hear you're at a dead end. at least you tried as much as you could, take care,

corina

[lieze]

A tip on the shrimp issie is it could be the preservatives sulfites that they use on the shrimp and not the actual shrimp itself. This seems to be my case.

Also I asked my DO about testing my aldosterone and she shrugged me off and said those levels can be all over the place and it doesn't mean anything.

Hmm I wonder if it really doesn't mean anything or they just don't know what it means huh?

Anyway good luck to you-good to see you back.

[issie]

A tip on the shrimp issie is it could be the preservatives sulfites that they use on the shrimp and not the actual shrimp itself. This seems to be my case.

Also I asked my DO about testing my aldosterone and she shrugged me off and said those levels can be all over the place and it doesn't mean anything.

Hmm I wonder if it really doesn't mean anything or they just don't know what it means huh?

Anyway good luck to you-good to see you back.

In my case, the shrimp I had was right off the boat with no preservatives. So, I know it's the shrimp. I don't put much stock in the allergy testing.

I asked about them checking other things and they said they didn't have clinical uses for these test. Whatever that means. So, I hit a wall there. Like I said, I felt like I got my diagnosis - they don't know what to do - so just live with it. Put on the bandaid and accept the fact that you have this and go on with life. (Wonder if they'd feel the same if THEY had this.)

It is nice however to have doctors acknowledging that you have a problem and knowing what it is. For diagnosis I recommend any of the three doctors I saw (whose names I listed). The GI doctor was good as was the dermatologist. I didn't feel the nephrologist was interested nor the endocrinologist. I also saw a Urogynocologist and Opthamologist - liked them too. If anyone wants names - just PM me. Don't think you will get the WHY answered - but maybe the WHAT.

[arizona girl]

Hey, issie and Jana, I'm out at doing testing a scottsdale mayo too! Had the best colonoscopy/endoscopy this am and came out of anesthesia feeling great, which never happens. I get hypotensive, hypothermic and nausea. Don't know results yet. But hopefully they are looking at all the issues that are causing my GI symptoms. The SFN, immune deficiency, and possible lupus.

So issie, I just had a lesion on my scalp, that my local dermo biopsied. Did they biopsy for your aloepcia? Turns out mine was the result of an early lupus lesion. I am also presenting with the malar butterfly rash. I used have a +ANA for years, but now it is negative. This type of lupus can cause alopecia and I will be getting a steriod injection as well. I went to a dermatologist in chandler if you want their name. Also when I looked up symptoms of lupus, the autonomic neuropathy is a symptom, so are GI symptoms and high platelet counts. I have all these. This condition is also a companion partner to the immune deficiency. I don't do well with steriods, so plaquenil is another remittant that may work for this. Do you take a lot of steriods?

You said you had low IGG, what did Lewis say about that, that is one of the area's he treats for. I'm seeing him too, only once so far. I was sent in to infectious disease by my neuro, because I keep getting infections, they wouldn't see me and sent me to him. I think he thought I was coming for a reevaluation on hypogamma and didn't realize I was there for infection control, so I've waited months, and of course I get another infection and elevated wbc days before today's procedure, also have thrush and yeast infection. So anyway, at least they are seeing what has been happening and when he once he saw I was supposed to see infec dis, they have finally set an appointment with them, so let's hope they don't cancel me again. I think mayo has been a mixed bag for me as well. I'm ready to hire a patient advocate, they have a couple here in the area, and a friend has suggested I see the one she knows.

Hey Jana did you ever get a skin biopsy for sfn and or large fiber?

Well good to see you both posting again!

[issie]

Lewis is still doing research. I bet you and I passed each other in the hallway. He told me he had just had another POTS patient right before me. When I saw the GI doc. same thing. They'd had two that week. So, we were probably rubbing elbows and didn't know it. His nurse called and they want to do some blood work for some other types of illnesses that he said would help him with the autoimmune issues - hopefully. I have to go get that done. I'm seeing the dermatologist at Mayo right now and really liked him. If that changes, I'll get your guys name. I don't really get sick. That's the funny thing. I seldom get anything. I just don't feel good - hardly ever - POTS and the other issues cause that. I haven't tested positive for Lupus and have been checked for it. They didn't do any biopsies - but if these shots don't stop the hair loss, then we will look at other things. Let me know what you find out.

Dr. Goodman's nurse called and he is reading the info I gave him on Renin and Aldesterone. She says he hasn't come to conclusions on it yet. But, he IS READING IT! Maybe between Goodman and Lewis we will get some answers. I gave the info to Lewis too and he definitely is reading it. I told her there are allot of people waiting to hear the response and people that would come from all over if we can figure some of this out. She was thrilled at my blood pressure readings with the clonidine.

[arizona girl]

That's also the weird thing for me too! I had positive ana for years, years ago. Now that the skin biopsy showed it though my ana is negative. John hopkins has a lupus site, on there it said there that there can be negative ana, also sometimes the lupus is just the skin type and doesn't show systemic.

That is funny too, lewis said something to me too about another patient when I mentioned that masto stuff was one of the causes I heard of from dinet. I saw Dr. Pasha for GI. I'm afraid Lewis thinks I'm a bit of a pain, even though I've only seen him once, I've been bugging their office about the infection rate, not that I was there to be rediagnosed. In his doctors note it sounded like he was trying to undiagnose the hypo gamma, which I had to challenge because he was basing it on half the dose of IVIG I was on, so totally picked apart his doctor note and asked him to make corrections.

What did he make of your low immunoglobulins? Have you read all your labs and doctors notes from mayo. I love that you can just go to medical records and getting everything at mayo and other hospitals. They just give it to you for free, unlike jumping thru hoops with some doctors offices and having to wait for them to get your results before you can see the labs. Hey, it couldn't hurt to ask your dermo to do the skin biopsy. My dermo, though took one look at mine and said do you have lupus, so it must have a distinct look. I can't see it cause it is on my head, but I did google images for skin lupus and it can look just awful.

Yea, I don't show obvious signs of infection either, I will just feel sick, like I have a fever and or have gi pain or other kinds of aches. What I found out though if you have an immune defect you can't mount a normal defense and a robust fever. My are really short and low grade, if I get any. Like this week high wbc, but no fever.

Well I'll keep you up on what happens out there. I know you plan to do the same. It will probably help others on dinet. That's a really good thing!

[skiberthoud]

Go Issie!!

[potsgirl]

Arizona Girl ~ Yes, I had the skin biopsy for small fiber neuropathy at Mayo Scottsdale and it came back positive. Am currently taking Neurontin for the chronic pain.

Issie ~ How interesting if that's the new pill Dr. G. was talking about. I was under the impression it was still in the testing stage and they weren't using it on humans yet. It still needed approval from the FDA. Did he say it was the pill that they were applying for approval with the FDA? What was it supposed to do for you, and how did it affect you?

Take care everybody, and you can PM or e-mail me if you'd like...

[issie]

It must not be the same thing. I think the one I tried has been around for awhile. That one wasn't good for me though. Seem to be doing okay on the clonidine - just have to take allot less than what is normal. I know my body doesn't throw meds off the way it should - they recirculate in my system and it takes forever for me to eliminate them. Liver doesn't work right. Couldn't take the mid day dose today because my bp was just too low today. So, will take the night dose and see how tomorrow goes.

What is the new med supposed to do?